ID

45759

Descripción

Principal Investigator: Kathleen Barnes, PhD, University of Colorado, Denver, CO, USA MeSH: Asthma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001143 Asthma is a complex disease where the interplay between genetic factors and environmental exposures influences susceptibility and disease prognosis. Asthmatics of African descent tend to have more severe asthma and more severe clinical symptoms than individuals of European ancestry. The baseline prevalence of asthma in Barbados is high (~20%), and from admixture analyses, we have determined that the proportion of African ancestry among Barbadian founders is similar to U.S. African Americans, rendering this a unique population to disentangle the genetic basis for asthma disparities among African ancestry populations in general. We therefore performed whole genome sequencing on 1,100 individuals from the Barbados Genetics of Asthma Study (BAGS), in order to generate additional discovery of rare and structural variants that may control risk to asthma.

Link

dbGaP-study=phs001143

Palabras clave

  1. 14/6/23 14/6/23 - Chiara Middel
Titular de derechos de autor

Kathleen Barnes, PhD, University of Colorado, Denver, CO, USA

Subido en

14 de junio de 2023

DOI

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Licencia

Creative Commons BY 4.0

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dbGaP phs001143 NHLBI TOPMed: The Genetics and Epidemiology of Asthma in Barbados

Eligibility Criteria

Inclusion and exclusion criteria
Descripción

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Subjects were prioritized for sequencing based on family membership, and subjects having blood samples with sufficient quantity and quality of DNA. 1100 individuals from 190 Barbados families were whole genome sequenced (asthma cases and controls). Among all cases, asthma was defined as both a reported history of asthma and a documented history of physician-diagnosed asthma (past or current). For each of the asthma studies, a standardized questionnaire based on either American Thoracic Society or International Study of Asthma and Allergy in Childhood questionnaires was administered by a clinical coordinator. The identity and relationships of individuals were checked using IBD estimates, and individuals were excluded if discrepant. Samples that failed whole genome sequencing quality control were also excluded.
Descripción

Elig.phs001143.v4.p1.1

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0549179
UMLS CUI [1,2]
C1561491
UMLS CUI [1,3]
C0015576
UMLS CUI [1,4]
C0680038
UMLS CUI [1,5]
C0470187
UMLS CUI [1,6]
C0178913
UMLS CUI [1,7]
C0205410
UMLS CUI [1,8]
C1265611
UMLS CUI [1,9]
C0332306
UMLS CUI [1,10]
C0012854
UMLS CUI [2,1]
C1707391
UMLS CUI [2,2]
C1265611
UMLS CUI [2,3]
C0237401
UMLS CUI [2,4]
C0004739
UMLS CUI [2,5]
C0015576
UMLS CUI [2,6]
C3640076
UMLS CUI [3,1]
C1704788
UMLS CUI [3,2]
C0004096
UMLS CUI [3,3]
C4319718
UMLS CUI [3,4]
C1301725
UMLS CUI [3,5]
C0262926
UMLS CUI [3,6]
C0004096
UMLS CUI [4,1]
C1255664
UMLS CUI [4,2]
C0034394
UMLS CUI [4,3]
C0037455
UMLS CUI [4,4]
C3846158
UMLS CUI [4,5]
C1533734
UMLS CUI [4,6]
C4721857
UMLS CUI [5,1]
C4321547
UMLS CUI [5,2]
C0600091
UMLS CUI [5,3]
C1552027
UMLS CUI [5,4]
C3846158
UMLS CUI [5,5]
C1290905
UMLS CUI [5,6]
C0680251
UMLS CUI [6,1]
C0680251
UMLS CUI [6,2]
C2347026
UMLS CUI [6,3]
C3640076
UMLS CUI [6,4]
C0231175
UMLS CUI [6,5]
C0034378

Similar models

Eligibility Criteria

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs001143.v4.p1.1
Item
Subjects were prioritized for sequencing based on family membership, and subjects having blood samples with sufficient quantity and quality of DNA. 1100 individuals from 190 Barbados families were whole genome sequenced (asthma cases and controls). Among all cases, asthma was defined as both a reported history of asthma and a documented history of physician-diagnosed asthma (past or current). For each of the asthma studies, a standardized questionnaire based on either American Thoracic Society or International Study of Asthma and Allergy in Childhood questionnaires was administered by a clinical coordinator. The identity and relationships of individuals were checked using IBD estimates, and individuals were excluded if discrepant. Samples that failed whole genome sequencing quality control were also excluded.
boolean
C0549179 (UMLS CUI [1,1])
C1561491 (UMLS CUI [1,2])
C0015576 (UMLS CUI [1,3])
C0680038 (UMLS CUI [1,4])
C0470187 (UMLS CUI [1,5])
C0178913 (UMLS CUI [1,6])
C0205410 (UMLS CUI [1,7])
C1265611 (UMLS CUI [1,8])
C0332306 (UMLS CUI [1,9])
C0012854 (UMLS CUI [1,10])
C1707391 (UMLS CUI [2,1])
C1265611 (UMLS CUI [2,2])
C0237401 (UMLS CUI [2,3])
C0004739 (UMLS CUI [2,4])
C0015576 (UMLS CUI [2,5])
C3640076 (UMLS CUI [2,6])
C1704788 (UMLS CUI [3,1])
C0004096 (UMLS CUI [3,2])
C4319718 (UMLS CUI [3,3])
C1301725 (UMLS CUI [3,4])
C0262926 (UMLS CUI [3,5])
C0004096 (UMLS CUI [3,6])
C1255664 (UMLS CUI [4,1])
C0034394 (UMLS CUI [4,2])
C0037455 (UMLS CUI [4,3])
C3846158 (UMLS CUI [4,4])
C1533734 (UMLS CUI [4,5])
C4721857 (UMLS CUI [4,6])
C4321547 (UMLS CUI [5,1])
C0600091 (UMLS CUI [5,2])
C1552027 (UMLS CUI [5,3])
C3846158 (UMLS CUI [5,4])
C1290905 (UMLS CUI [5,5])
C0680251 (UMLS CUI [5,6])
C0680251 (UMLS CUI [6,1])
C2347026 (UMLS CUI [6,2])
C3640076 (UMLS CUI [6,3])
C0231175 (UMLS CUI [6,4])
C0034378 (UMLS CUI [6,5])

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